title: Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
abstract: Plasma free fatty acid profiles from patients suffering from various mitochondrial beta-oxidation deficiencies were analyzed by gas chromatography-mass spectrometry. cis-4-Decenoic acid (10:1n-6) in medium-chain acyl-CoA dehydrogenase deficiency and cis-5-tetradecenoic acid (14:1n-9) in very-long-chain and 3-hydroxy-long chain acyl-CoA dehydrogenase deficiencies are characteristic of these diseases. In addition, patients with 3-hydroxy-long chain acyl-CoA dehydrogenase deficiency showed a specific increase of 3-hydroxy-long chain fatty acids. The study of plasma free fatty acids is an easy and useful methodology for the diagnostic approach of some mitochondrial beta-oxidation deficiencies, allowing us to establish a quick differentiation between medium- and long-chain defects.
authors.affiliation: Institut de Bioquímica Clínica, Corporació Sanitària, Edifici Helios III Cl Mejia Lequerica, Barcelona, Spain.
authors.forename: G
authors.initials: G
authors.lastname: Martínez
authors.forename: G
authors.initials: G
authors.lastname: Jiménez-Sánchez
authors.forename: P
authors.initials: P
authors.lastname: Divry
authors.forename: C
authors.initials: C
authors.lastname: Vianey-Saban
authors.forename: E
authors.initials: E
authors.lastname: Riudor
authors.forename: M
authors.initials: M
authors.lastname: Rodés
authors.forename: P
authors.initials: P
authors.lastname: Briones
authors.forename: A
authors.initials: A
authors.lastname: Ribes
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D002331:Carnitine / Q000097:blood / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005227:Fatty Acids / Q000378:metabolism*; D005230:Fatty Acids, Nonesterified / Q000097:blood*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013058:Mass Spectrometry; D008928:Mitochondria / Q000201:enzymology / Q000378:metabolism*; D010084:Oxidation-Reduction
chemical_list: D005227:Fatty Acids; D005230:Fatty Acids, Nonesterified; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine